XPV
MCID: XRD010
MIFTS: 31

Xeroderma Pigmentosum, Variant Type (XPV) malady

Genetic diseases, Rare diseases, Skin diseases, Fetal diseases, Cancer diseases categories
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Summaries for Xeroderma Pigmentosum, Variant Type

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MalaCards based summary: Xeroderma Pigmentosum, Variant Type, also known as xeroderma pigmentosum with normal dna repair rates, is related to xeroderma pigmentosum and angiosarcoma, and has symptoms including skin photosensitivity, abnormal pigmentary skin changes/skin pigmentation anomalies and excessive freckling. An important gene associated with Xeroderma Pigmentosum, Variant Type is POLH (polymerase (DNA directed), eta). Affiliated tissues include skin.

Description from OMIM:46 278750

Aliases & Classifications for Xeroderma Pigmentosum, Variant Type

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Sources:
42NIH Rare Diseases, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Xeroderma Pigmentosum, Variant Type, Aliases & Descriptions:

Name: Xeroderma Pigmentosum, Variant Type 42 22 46 62
Xeroderma Pigmentosum with Normal Dna Repair Rates 42 62
Photosensitivity with Defective Dna Synthesis 42 62
 
Xpv 42 48
Xeroderma Pigmentosum Variant 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
xpv:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Adolescence / Young adulthood


External Ids:

OMIM46 278750
MESH via Orphanet35 C536766
ICD10 via Orphanet26 Q82.1
UMLS via Orphanet63 C0432328, C1848410

Related Diseases for Xeroderma Pigmentosum, Variant Type

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Graphical network of diseases related to Xeroderma Pigmentosum, Variant Type:



Diseases related to xeroderma pigmentosum, variant type

Symptoms for Xeroderma Pigmentosum, Variant Type

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Symptoms by clinical synopsis from OMIM:

278750

Clinical features from OMIM:

278750

Symptoms:

48 (show all 10)
  • skin photosensitivity
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • excessive freckling
  • telangiectasic erythema/poikiloderma
  • warts/papillomas
  • autosomal recessive inheritance
  • skin hypoplasia/aplasia/atrophy
  • dry/squaly skin/exfoliation
  • telangiectasiae of the skin
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)

HPO human phenotypes related to Xeroderma Pigmentosum, Variant Type:

(show all 20)
id Description Frequency HPO Source Accession
1 cutaneous photosensitivity hallmark (90%) HP:0000992
2 poikiloderma hallmark (90%) HP:0001029
3 freckling hallmark (90%) HP:0001480
4 verrucae hallmark (90%) HP:0200043
5 dry skin typical (50%) HP:0000958
6 aplasia/hypoplasia of the skin typical (50%) HP:0008065
7 teleangiectasia of the skin typical (50%) HP:0100585
8 autosomal recessive inheritance HP:0000007
9 keratitis HP:0000491
10 conjunctivitis HP:0000509
11 photophobia HP:0000613
12 entropion HP:0000621
13 ectropion HP:0000656
14 cutaneous photosensitivity HP:0000992
15 telangiectasia HP:0001009
16 poikiloderma HP:0001029
17 basal cell carcinoma HP:0002671
18 squamous cell carcinoma HP:0002860
19 dermal atrophy HP:0004334
20 cutaneous melanoma HP:0012056

Drugs & Therapeutics for Xeroderma Pigmentosum, Variant Type

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Drug clinical trials:

Search ClinicalTrials for Xeroderma Pigmentosum, Variant Type

Search NIH Clinical Center for Xeroderma Pigmentosum, Variant Type

Genetic Tests for Xeroderma Pigmentosum, Variant Type

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Genetic tests related to Xeroderma Pigmentosum, Variant Type:

id Genetic test Affiliating Genes
1 Xeroderma Pigmentosum, Variant Type22

Anatomical Context for Xeroderma Pigmentosum, Variant Type

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MalaCards organs/tissues related to Xeroderma Pigmentosum, Variant Type:

32
Skin

Animal Models for Xeroderma Pigmentosum, Variant Type or affiliated genes

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Publications for Xeroderma Pigmentosum, Variant Type

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Articles related to Xeroderma Pigmentosum, Variant Type:

idTitleAuthorsYear
1
Three school-age cases of xeroderma pigmentosum variant type. (23651273)
2013
2
Identification of a novel nonsense mutation in POLH in a Chinese pedigree with xeroderma pigmentosum, variant type. (23630442)
2013
3
Four types of possible founder mutations are responsible for 87% of Japanese patients with Xeroderma pigmentosum variant type. (18703314)
2008
4
Molecular analysis of DNA polymerase eta gene in Japanese patients diagnosed as xeroderma pigmentosum variant type. (17344931)
2007

Variations for Xeroderma Pigmentosum, Variant Type

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UniProtKB/Swiss-Prot genetic disease variations for Xeroderma Pigmentosum, Variant Type:

64
id Symbol AA change Variation ID SNP ID
1POLHp.Arg111HisVAR_021227
2POLHp.Thr122ProVAR_021228
3POLHp.Gly263ValVAR_021230
4POLHp.Arg361SerVAR_021232
5POLHp.Lys535GluVAR_021234rs56307355
6POLHp.Lys589ThrVAR_021236
7POLHp.Arg93ProVAR_070836
8POLHp.Val266AspVAR_070837
9POLHp.Gly295ArgVAR_070838
10POLHp.Thr692AlaVAR_070839

Clinvar genetic disease variations for Xeroderma Pigmentosum, Variant Type:

6 (show all 12)
id Gene Name Type Significance SNP ID Assembly Location
1POLHPOLH, 13-BP DEL, NT343deletionPathogenic
2POLHPOLH, 4-BP DEL, NT289deletionPathogenic
3POLHPOLH, 2-BP DEL, NT770deletionPathogenic
4POLHNM_006502.2(POLH): c.916G> T (p.Glu306Ter)single nucleotide variantPathogenicrs121908562GRCh37Chr 6, 43572383: 43572383
5POLHPOLH, DEL AND TRP297TERdeletionPathogenic
6POLHNM_006502.2(POLH): c.376C> T (p.Gln126Ter)single nucleotide variantPathogenicrs121908563GRCh37Chr 6, 43555112: 43555112
7POLHNM_006502.2(POLH): c.1117C> T (p.Gln373Ter)single nucleotide variantPathogenicrs121908564GRCh37Chr 6, 43578333: 43578333
8POLHPOLH, 104-BP DEL, NT661deletionPathogenic
9POLHPOLH, 1-BP DEL, 207GdeletionPathogenic
10POLHPOLH, 3-BP DEL, NT222deletionPathogenic
11POLHNM_006502.2(POLH): c.1603A> G (p.Lys535Glu)single nucleotide variantPathogenicrs56307355GRCh37Chr 6, 43581755: 43581755
12POLHNM_006502.2(POLH): c.1766A> C (p.Lys589Thr)single nucleotide variantPathogenicrs121908565GRCh37Chr 6, 43581918: 43581918

Expression for genes affiliated with Xeroderma Pigmentosum, Variant Type

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Expression patterns in normal tissues for genes affiliated with Xeroderma Pigmentosum, Variant Type

Search GEO for disease gene expression data for Xeroderma Pigmentosum, Variant Type.

Pathways for genes affiliated with Xeroderma Pigmentosum, Variant Type

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Compounds for genes affiliated with Xeroderma Pigmentosum, Variant Type

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GO Terms for genes affiliated with Xeroderma Pigmentosum, Variant Type

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Products for genes affiliated with Xeroderma Pigmentosum, Variant Type

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  • Antibodies
  • Proteins
  • Lysates

Sources for Xeroderma Pigmentosum, Variant Type

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet